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Table 1 Phenotypes resulting from genetic ablation or mutations of the orphan nuclear receptor SF-1.

From: SF-1 a key player in the development and differentiation of steroidogenic tissues

Organism

Mouse

Human

Genotype

SF-1 -/-

SF-1 +/-

SF-1 m/+ ou SF-1 m/m

Adrenal

- Agenesis

- Histological defects

- Hyporesponse to stress

- Compensatory growth defects

- Insufficiency (agenesis or dysgenesis)

Testis

- Agenesis

- Sex reversal

 

- Sex reversal

Ovary

- Agenesis

 

- Normal

VMH

- Agenesis

- Obesity caused by absence

of the VMH (8 weeks)

  

Pituitary

- Defects of gonadotrope cells